Loss-of-function mutations in many of these proteins have been implicated in human developmental disorders collectively termed "cohesinopathies." Through clinical exome sequencing (CES) of an 8-year-old girl with a clinical history of global developmental delay, microcephaly, microtia with hearing loss, language delay, ADHD, and dysmorphic features, we describe a heterozygous de novo variant (c.205C>T p.(Arg69*)) in the integral cohesin structural protein, STAG2. The core of the complex consists of four subunits: SMC1A, SMC3, RAD21, and STAG1/2. Additionally, the cohesin complex regulates DNA replication, DNA repair, and transcription. ![]() The cohesin complex is an evolutionarily conserved multi-subunit protein complex which regulates sister chromatid cohesion during mitosis and meiosis.
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